Clinical Phenotype and Genetic and Genomic Basis of Cleft Lip and

Abstract

AIM: To apply contemporary knowledge in genomics, modern techniques for experimental testing and data analysis in the investigation of genetic and genomic basis of cleft lip and/ or palate (CL/P) of the population of Lithuania according to clinical, syndromic and genetic data. MATERIALS AND METHOD: The records of patients with congenital CL/P from the database of the Lithuanian CLP Biobank. Protocols for the investigation of clinical phenotype were established, and subjects qualifying the criteria were selected for clinical investigation. The medical records of 49 families were studied. The type of cleft was classifi ed according ICD-10 and LAHSHAL classifi cations. Additionally, assessment of syndromic clefts was performed. RESULTS: Three CL/P cases were classifi ed as familial according to genealogic data. Out of 49 probands 13 had multiple congenital anomalies (MCA); after performing syndromic analysis of these patients, they were divided into a group of identifi ed cases and a group of unknown origin cases. Two Pierre-Robin sequences, one foetal alcohol syndrome and one Cornelia de Lange case were identifi ed. In the MCA group of unknown origin, 34 congenital anomalies were identifi ed (average 3.7 anomalies/proband), most often skeletal. CONCLUSIONS: An interdisciplinary approach by collaboration of specialists from different fi elds (geneticists, orthodontists, bioinformatics specialists, mathematicians) is necessary for developing new and elaborating existing methods for biostatistical analysis of testing results to estimate their relation to the CLP phenotype.